Search Thermo Fisher Scientific
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ACAGATTATCACAAATCGAGGAAGT[A/G]GAGGCAACATCATTGCTGCTATGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189906 | ||||||||||||||||||||
Literature Links: |
SP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SP1 - Sp1 transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001251825.1 | 614 | Missense Mutation | AGA,GGA | R,G 173 | NP_001238754.1 | |
NM_003109.1 | 614 | Missense Mutation | AGA,GGA | R,G 214 | NP_003100.1 | |
NM_138473.2 | 614 | Missense Mutation | AGA,GGA | R,G 221 | NP_612482.2 | |
XM_011538696.2 | 614 | Missense Mutation | AGA,GGA | R,G 214 | XP_011536998.1 |